selected publications
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Germline alterations in patients with biliary tract cancers: A spectrum of significant and previously underappreciated findings.
Cancer.
2020
Academic Article
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Times cited: 33 - Author Correction: Tumour lineage shapes BRCA-mediated phenotypes. 2020 GET IT
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Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma.
Human mutation.
2019
Academic Article
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Times cited: 27 -
Tumour lineage shapes BRCA-mediated phenotypes.
Nature.
2019
Academic Article
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Times cited: 289 -
RE: BRCA1 and BRCA2 Gene Mutations and Colorectal Cancer Risk: Systematic Review and Meta-analysis.
Journal of the National Cancer Institute.
2019
Letter
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Times cited: 7 -
Toward automation of germline variant curation in clinical cancer genetics.
Genetics in medicine : official journal of the American College of Medical Genetics.
2019
Academic Article
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Times cited: 27 -
Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
Journal of the National Cancer Institute.
2019
Academic Article
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Times cited: 115 -
Colorectal Carcinomas Containing Hypermethylated MLH1 Promoter and Wild-Type BRAF/KRAS Are Enriched for Targetable Kinase Fusions.
Cancer research.
2019
Academic Article
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Times cited: 115 -
Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
2018
Academic Article
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Times cited: 414 -
Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms.
Journal of the National Cancer Institute.
2018
Academic Article
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Times cited: 181 -
Genome doubling shapes the evolution and prognosis of advanced cancers.
Nature genetics.
2018
Academic Article
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Times cited: 373 -
Evaluating Mismatch Repair Deficiency in Pancreatic Adenocarcinoma: Challenges and Recommendations.
Clinical cancer research : an official journal of the American Association for Cancer Research.
2018
Academic Article
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Times cited: 279 -
Phase 1 trial evaluating cisplatin, gemcitabine, and veliparib in 2 patient cohorts: Germline BRCA mutation carriers and wild-type BRCA pancreatic ductal adenocarcinoma.
Cancer.
2018
Academic Article
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Times cited: 94 -
Phase II trial of veliparib in patients with previously treated BRCA-mutated pancreas ductal adenocarcinoma.
European journal of cancer.
2017
Academic Article
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Times cited: 125 -
Total Gastrectomy for Hereditary Diffuse Gastric Cancer at a Single Center: Postsurgical Outcomes in 41 Patients.
Annals of surgery.
2017
Academic Article
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Times cited: 33 -
Genetic Predictors of Response to Systemic Therapy in Esophagogastric Cancer.
Cancer discovery.
2017
Academic Article
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Times cited: 289 -
Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing.
JAMA.
2017
Academic Article
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Times cited: 367 -
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.
Nature genetics.
2017
Academic Article
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Times cited: 310 -
Molecular Screening for Lynch Syndrome in Young Patients With Colorectal Adenomas.
Clinical colorectal cancer.
2017
Academic Article
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Times cited: 10 -
Diagnosing colorectal medullary carcinoma: interobserver variability and clinicopathological implications.
Human pathology.
2016
Academic Article
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Times cited: 22 -
Morphological characterization of colorectal cancers in The Cancer Genome Atlas reveals distinct morphology-molecular associations: clinical and biological implications.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc.
2016
Academic Article
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Times cited: 70 -
Clinical and genetic determinants of ovarian metastases from colorectal cancer.
Cancer.
2016
Academic Article
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Times cited: 52 -
Uterine Cancer After Risk-Reducing Salpingo-oophorectomy Without Hysterectomy in Women With BRCA Mutations.
JAMA oncology.
2016
Academic Article
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Times cited: 197 -
Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.
Breast cancer research and treatment.
2016
Academic Article
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Times cited: 19 - Reply to G. Le Flahec et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2016 Letter GET IT
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Educational and Psychosocial Support Needs in Lynch Syndrome: Implementation and Assessment of an Educational Workshop and Support Group.
Journal of genetic counseling.
2016
Academic Article
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Times cited: 11 -
Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
2016
Academic Article
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Times cited: 144 -
A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer.
Cancer discovery.
2016
Academic Article
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Times cited: 41 -
Patterns and prognostic relevance of PD-1 and PD-L1 expression in colorectal carcinoma.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc.
2016
Academic Article
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Times cited: 148 -
Counselling framework for moderate-penetrance cancer-susceptibility mutations.
Nature reviews. Clinical oncology.
2016
Review
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Times cited: 256 -
Faster FOLFOX: Oxaliplatin Can Be Safely Infused at a Rate of 1 mg/m2/min.
Journal of oncology practice.
2016
Academic Article
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Times cited: 7 -
Reliable Detection of Mismatch Repair Deficiency in Colorectal Cancers Using Mutational Load in Next-Generation Sequencing Panels.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
2016
Academic Article
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Times cited: 191 -
Genomic instability in pancreatic adenocarcinoma: a new step towards precision medicine and novel therapeutic approaches.
Expert review of gastroenterology & hepatology.
2016
Review
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Times cited: 46 -
A Germline Variant on Chromosome 4q31.1 Associates with Susceptibility to Developing Colon Cancer Metastasis.
PloS one.
2016
Academic Article
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Times cited: 3 -
Identification of germline genetic mutations in patients with pancreatic cancer.
Cancer.
2015
Academic Article
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Times cited: 170 -
Variation in the Attitudes of Medical Oncologists Toward Research Biopsies in Patients With Metastatic Breast Cancer.
The oncologist.
2015
Academic Article
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Times cited: 8 -
Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia.
PLoS genetics.
2015
Academic Article
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Times cited: 125 -
PMS2 monoallelic mutation carriers: the known unknown.
Genetics in medicine : official journal of the American College of Medical Genetics.
2015
Review
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Times cited: 49 -
Diagnosis and management of DNA mismatch repair-deficient colorectal cancer.
Hematology/oncology clinics of North America.
2015
Review
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Times cited: 11 -
False-positive elevations of carcinoembryonic antigen in patients with a history of resected colorectal cancer.
Journal of the National Comprehensive Cancer Network : JNCCN.
2014
Academic Article
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Times cited: 81 -
Assessment of individuals with BRCA1 and BRCA2 large rearrangements in high-risk breast and ovarian cancer families.
Breast cancer research and treatment.
2014
Academic Article
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Times cited: 6 -
Neoadjuvant chemotherapy first, followed by chemoradiation and then surgery, in the management of locally advanced rectal cancer.
Journal of the National Comprehensive Cancer Network : JNCCN.
2014
Academic Article
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Times cited: 186 -
Assessment of SLX4 Mutations in Hereditary Breast Cancers.
PloS one.
2013
Academic Article
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Times cited: 33 -
Attitudes of patients with metastatic breast cancer toward research biopsies.
Annals of oncology : official journal of the European Society for Medical Oncology.
2013
Academic Article
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Times cited: 22 -
Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.
PLoS genetics.
2013
Academic Article
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Times cited: 43 -
Risk of metachronous breast cancer after BRCA mutation-associated ovarian cancer.
Cancer.
2012
Academic Article
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Times cited: 34 -
Secondary mutation in a coding mononucleotide tract in MSH6 causes loss of immunoexpression of MSH6 in colorectal carcinomas with MLH1/PMS2 deficiency.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc.
2012
Academic Article
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Times cited: 79 -
Rare de novo germline copy-number variation in testicular cancer.
American journal of human genetics.
2012
Academic Article
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Times cited: 17 -
Genetic testing in gastrointestinal cancers: a case-based approach.
Oncology (Williston Park, N.Y.).
2012
Review
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Times cited: 5 -
Unusual DNA mismatch repair-deficient tumors in Lynch syndrome: a report of new cases and review of the literature.
Human pathology.
2012
Review
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Times cited: 68 -
The prevalence of thyroid cancer and benign thyroid disease in patients with familial adenomatous polyposis may be higher than previously recognized.
Clinical colorectal cancer.
2012
Academic Article
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Times cited: 41 -
Systematic immunohistochemistry screening for Lynch syndrome in early age-of-onset colorectal cancer patients undergoing surgical resection.
Journal of the American College of Surgeons.
2012
Academic Article
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Times cited: 31 -
An emerging entity: pancreatic adenocarcinoma associated with a known BRCA mutation: clinical descriptors, treatment implications, and future directions.
The oncologist.
2011
Academic Article
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Times cited: 220 -
Prevalence of BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and pancreatic cancer.
Cancer.
2011
Academic Article
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Times cited: 69 -
Germline PALB2 mutation analysis in breast-pancreas cancer families.
Journal of medical genetics.
2011
Academic Article
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Times cited: 28 -
Immunohistochemical staining for DNA mismatch repair proteins in intestinal tract carcinoma: how reliable are biopsy samples?.
The American journal of surgical pathology.
2011
Academic Article
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Times cited: 55 -
Discriminatory accuracy and potential clinical utility of genomic profiling for breast cancer risk in BRCA-negative women.
Breast cancer research and treatment.
2010
Academic Article
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Times cited: 15 -
Diagnosing hereditary colorectal cancer.
Clinical colorectal cancer.
2010
Review
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Times cited: 11 -
Genome-wide association studies of cancer predisposition.
Hematology/oncology clinics of North America.
2010
Review
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Times cited: 35 -
Prospective immunohistochemical analysis of primary colorectal cancers for loss of mismatch repair protein expression.
Clinical colorectal cancer.
2010
Academic Article
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Times cited: 11 -
Genome-wide association studies of cancer: principles and potential utility.
Oncology (Williston Park, N.Y.).
2010
Review
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Times cited: 19 -
Absence of genomic BRCA1 and BRCA2 rearrangements in Ashkenazi breast and ovarian cancer families.
Breast cancer research and treatment.
2010
Academic Article
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Times cited: 15 -
Germline BRCA mutations denote a clinicopathologic subset of prostate cancer.
Clinical cancer research : an official journal of the American Association for Cancer Research.
2010
Academic Article
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Times cited: 243 -
Weighing options for cancer risk reduction in carriers of BRCA1 and BRCA2 mutations.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
2009
Editorial Article
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Times cited: 4 -
Immunohistochemistry as first-line screening for detecting colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome: a 2-antibody panel may be as predictive as a 4-antibody panel.
The American journal of surgical pathology.
2009
Academic Article
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Times cited: 123 -
Serum alpha-fetoprotein response as a surrogate for clinical outcome in patients receiving systemic therapy for advanced hepatocellular carcinoma.
The oncologist.
2009
Academic Article
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Times cited: 79 -
Basal cytokeratin and epidermal growth factor receptor expression are not predictive of BRCA1 mutation status in women with triple-negative breast cancers.
The American journal of surgical pathology.
2009
Academic Article
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Times cited: 57 -
Review of gene-expression profiling and its clinical use in breast cancer.
Critical reviews in oncology/hematology.
2008
Review
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Times cited: 26